PatientPlus articles are written by UK doctors and are based on research evidence, UK and European Guidelines. They are designed for health professionals to use, so you may find the language more technical than the condition leaflets.
Synonyms: XLP, Duncan's disease, familial fatal Epstein-Barr virus infection, Purtilo's syndrome
This X-linked inherited disorder (thus affecting boys) resulting from a defective gene at Xq25 is characterised by a severe susceptibility to Epstein-Barr virus (EBV) infections.
Following exposure, 75% of patients develop a severe or fatal infectious mononucleosis. Survivors may go on to develop an acquired hypogammaglobulinaema, red cell aplasia, aplastic anaemia or lymphomatoid granulomatosis.
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Patients present in childhood (mean age 3-5 years) with signs of EBV infection:
- Respiratory: pharyngitis, lymphoid granulomatosis of lung.
- Abdomen: hepatomegaly, fulminant hepatitis and liver failure, splenomegaly.
- Haematological: atypical mononucleosis (lymphocytosis); thrombocytopenia or bone marrow failure.
- CNS: meningitis or encephalitis, hepatic encephalopathy.
Bone marrow transplant is the definitive treatment. Transplantation of cord-blood stem cells from an HLA-identical sibling has also been successful.
There is research into the use of anti-CD20 rituximab (monoclonal antibody) in the acute phase of EBV infection which shows promise, and cytotoxic chemotherapy may also have a role.
Genetic testing can identify affected individuals and carriers, and antenatal diagnosis is possible.
Without transplant, 70% of patients will not survive beyond 10 years of age.
Further reading & references
- Arkwright PD, Makin G, Will AM, et al; X linked lymphoproliferative disease in a United Kingdom family. Arch Dis Child. 1998 Jul;79(1):52-5.
- X-linked Lymphoproliferative Disorder, Online Mendelian Inheritance in Man (OMIM)
- Seiter K et al; Lymphoproliferative Syndrome, X-linked, Medscape, Mar 2011
- Purtilo DT, Sakamoto K, Barnabei V, et al; Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry. Am J Med. 1982 Jul;73(1):49-56.
- Pracher E, Panzer-Grumayer ER, Zoubek A, et al; Successful bone marrow transplantation in a boy with X-linked lymphoproliferative syndrome and acute severe infectious mononucleosis. Bone Marrow Transplant. 1994 May;13(5):655-8.
- Hoffmann T, Heilmann C, Madsen HO, et al; Matched unrelated allogeneic bone marrow transplantation for recurrent malignant lymphoma in a patient with X-linked lymphoproliferative disease (XLP). Bone Marrow Transplant. 1998 Sep;22(6):603-4.
- Vowels MR, Tang RL, Berdoukas V, et al; Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells. N Engl J Med. 1993 Nov 25;329(22):1623-5.
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. EMIS has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.
Dr Huw Thomas
Dr Hayley Willacy